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发帖数: 10208 | 1 Illumina, Inc. (NASDAQ:ILMN) today announced the launch of its TruGenome
Undiagnosed Disease Test provided by the CLIA-certified, CAP-accredited
Illumina Clinical Services Laboratory (ICSL). This new service uses whole
human genome sequencing to assist physicians in identifying the underlying
genetic cause of a rare or undiagnosed disease. By providing physicians with
more comprehensive information from a single test, the service enables a
broader understanding of the genetic basis for disease.
The ICSL uses proven Illumina next-generation sequencing technology to
provide a complete picture of the genome. Illumina's team of Ph.D.
geneticists and certified medical geneticists with expertise in reviewing
whole-genome data as it pertains to genetic disease performs the analysis
using Illumina's VariantStudio software for rigorous variant classification.
VariantStudio aggregates data from multiple sources into a single database
that is updated as new discoveries are made, ensuring that analysis is based
on current knowledge of clinically relevant gene variants.
"Whole-genome sequencing and interpretation tools have the potential to
benefit the 350 million people worldwide affected by rare diseases, 50
percent of whom are children. By offering the TruGenome Undiagnosed Disease
Test, and partnering with other leading medical institutions that are
beginning to offer whole-genome sequencing tests for the diagnosis of rare
diseases, Illumina intends to demonstrate the clinical utility of whole-
genome sequencing in these cases," said Matt Posard, Senior Vice President
and General Manager of Illumina's Translational and Consumer Genomics
business. "By developing and defining the tools needed to perform whole-
genome sequencing and interpret the results in rare disease cases, we hope
to enable clinical laboratories to offer these services worldwide in the
future. In the end, we all want to see answers for patients and families
facing an undiagnosed disease."
"Whole-genome sequencing is proving to be an invaluable tool in the
identification of rare and undiagnosed disease, and as we learn more about
the human genome and its impact on human health, I expect sequencing to
become a regular component of health care. Medical College of Wisconsin's
partnership with Illumina for clinical testing services has greatly advanced
our capacity in this area," said Howard Jacob, Director of the Human and
Molecular Genetics Center and Warren P. Knowles Chair of Genetics at the
Medical College of Wisconsin. |
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